A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234488



Internal ID21681997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48236511..48236511hg38UCSC Ensembl
chr1:48702183..48702183hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719835
Supporting Variants
Samples
Known GenesSLC5A9
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17234488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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